ID   GM29488
AC   CVCL_F0ZG
SY   GM29488*B
DR   Coriell; GM29488
CC   Population: Caucasian; Swiss.
CC   Sequence variation: Mutation; HGNC; HGNC:2211; COL6A1; Simple; c.1003-1G>A; ClinVar=VCV000286179; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM29488).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126688; Bethlem myopathy 1
DI   ORDO; Orphanet_610; Bethlem myopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A2PX ! GM27123
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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